PALB2 c.1033T>G ;(p.L345V)

Variant ID: 16-23646834-A-C

NM_024675.3(PALB2):c.1033T>G;(p.L345V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer.

Cell Reports
De Mattos-Arruda, Leticia L; Sammut, Stephen-John SJ; Ross, Edith M EM; Bashford-Rogers, Rachael R; Greenstein, Erez E; Markus, Havell H; Morganella, Sandro S; Teng, Yvonne Y; Maruvka, Yosef Y; Pereira, Bernard B; Rueda, Oscar M OM; Chin, Suet-Feung SF; Contente-Cuomo, Tania T; Mayor, Regina R; Arias, Alexandra A; Ali, H Raza HR; Cope, Wei W; Tiezzi, Daniel D; Dariush, Aliakbar A; Dias Amarante, Tauanne T; Reshef, Dan D; Ciriaco, Nikaoly N; Martinez-Saez, Elena E; Peg, Vicente V; Ramon Y Cajal, Santiago S; Cortes, Javier J; Vassiliou, George G; Getz, Gad G; Nik-Zainal, Serena S; Murtaza, Muhammed M; Friedman, Nir N; Markowetz, Florian F; Seoane, Joan J; Caldas, Carlos C
Publication Date: 2019-05-28

Variant appearance in text: PALB2: L345V
PubMed Link: 31141692
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc4.xlsx, sheet 1
View BVdb publication page



Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.

Familial Cancer
Myszka, Aleksander A; Nguyen-Dumont, Tu T; Karpinski, Pawel P; Sasiadek, Maria M MM; Akopyan, Hayane H; Hammet, Fleur F; Tsimiklis, Helen H; Park, Daniel J DJ; Pope, Bernard J BJ; Slezak, Ryszard R; Kitsera, Nataliya N; Siekierzynska, Aleksandra A; Southey, Melissa C MC
Publication Date: 2018-07

Variant appearance in text: PALB2: L345V
PubMed Link: 29052111
Variant Present in the following documents:
  • Main text
  • 10689_2017_Article_50.pdf
View BVdb publication page